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凉山彝族血脂状况及其载脂蛋白AI基因启动子嘌呤置换突变限制片段长度多态性研究


赵庆伟 申萍 张华 周梦玲 佘铭鹏

  【摘要】 目的 为探讨凉山彝族农民血脂水平与心血管病发生率低的原因,通过流行病学调查采集691份(人)血样,确定彝族农民、彝族移民、当地城市汉族居民三组人群的各项血脂水平,并探讨载脂蛋白基因多态性在人群血脂水平变异中的作用。方法 血脂测定、从凝血块中分离DNA、DNA聚合酶链式反应-限制 片段长度多态性分析。结果 (1)彝族农民各项血脂(TC、TG、HDL-C、apo AI、apo B)水平显著低于彝族移民和汉族居民(P<0.01)。(2)彝族移民与当地汉族居民间,除HDL-C外的各项血脂水平相当,彝族移民的HDL-C水平明显低于汉族居民(P<0.05)。(3)apo AI基因启动子G/A置换多态性分析显示,彝族农民、彝族移民和汉族居民三组人群的A等位基因相对频率分别为0.23、0.24、0.23,差异无显著性,与新加坡华人的相对频率0.275相近,均显著高于高加索人。(4)各组人群内,GG基因型者与GA和AA基因型者的各项血脂水平差异均无显著性。结论 结果提示 ,(1)在现阶段,彝族农民各项血脂处于低水平,可能主要归因于饮食等环境因素,生活水平提高脂肪摄入增加会导致群体血脂水平升高;(2)中国人的A等位基因频率显著高于高加索人,各民族 间可能无明显差异。(3)apo AI基因启动子-75 bp G/A单点突变对血脂数量表型的影响不明显。
  【关键词】 脂类  基因  环境  彝族  聚合酶链反应  多态性,限制片段长度

Guanine to adenine(G/A) substitution in the promoter region of the apolipoprotein AI gene and plasma lipid and apolipoprotein profile in Chinese Liangshan Yi and Han  ZHAO Qingwei, SHEN Ping, ZHANG Hua, et al. Department of Pathology, Institute of Basic Medical Sciences, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing 100005
  【Abstract】 Objective Chinese Liangshan Yi, which has very low plasma lipid level and cardiovascular disease morbidity, is important for cardiovarscular study. The influence of the guanidine to adenine (G/A) substitution in the promoter region of apolipoprotein AI gene (at 75bp) on plasma lipid and apolipoprotein levels was studied in 691 healthy Chinese Liangshan Yi and Han. Methods Epidemiological field survey, plasma lipid and apolipoprotein determination, genomic DNA preparation, PCR, PFLP were carried out.Results (1) Levels of TC, TG, HDL-C, apo AI, and apo B in Yi-farmer sample were significantly lower than those in Yi-emigrant sample (P<0.01). (2) Yi- emigrants had the similar levels of TC, TG, and apolipoproteins with Liangshan Han people, but its HDL-C level was 7% lower than Han. (3) The relative frequencies of the A allele in the three samples had no evident difference with mean value of 0.23 (Yi-farmer 0

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